A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3519773



Internal ID22389180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8325911..8325911hg38UCSC Ensembl
chr19:8390795..8390795hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393885
SamplesNA19240
Known GenesKANK3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3519773
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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